Izvorni znanstveni članak
High Prevalence of Germline CDKN2A Mutations in Slovenian Cutaneous Malignant Melanoma Families
Marko Hočevar
Magdalena Avbelj
Barbara Perić
Janez Žgajnar
Nikola Bešić
Tadej Battelino
Sažetak
Aim: To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families.
Methods: From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history.
Results: Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS – 1g > a). No mutations could be detected in 3 children.
Conclusions: The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.
Ključne riječi
melanoma; germline mutation; hereditary cancer; CDKN2A; Slovenia
Hrčak ID:
6326
URI
Datum izdavanja:
15.12.2006.
Posjeta: 794 *